External Ids for IFT74 Gene

Previous HGNC Symbols for IFT74 Gene

Summaries for IFT74 Gene

Entrez Gene Summary for IFT74 Gene

This gene encodes a core intraflagellar transport (IFT) protein which belongs to a multi-protein complex involved in the transport of ciliary proteins along axonemal microtubules. IFT proteins are found at the base of the cilium as well as inside the cilium, where they assemble into long arrays between the ciliary base and tip. This protein, together with intraflagellar transport protein 81, binds and transports tubulin within cilia and is required for ciliogenesis. Naturally occurring mutations in this gene are associated with amyotrophic lateral sclerosis--frontotemporal dementia and Bardet-Biedl Syndrome. [provided by RefSeq, Mar 2017]

UniProtKB/Swiss-Prot for IFT74 Gene

Component of the intraflagellar transport (IFT) complex B: together with IFT81, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds beta-tubulin via its basic region. Required for ciliogenesis.

UniProtKB/Swiss-Prot:

Function for IFT74 Gene

Products:

Molecular function for IFT74 Gene

UniProtKB/Swiss-Prot Function:

Component of the intraflagellar transport (IFT) complex B: together with IFT81, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds beta-tubulin via its basic region. Required for ciliogenesis.

SOURCE GeneReport for Unigene cluster for IFT74 Gene:

mRNA Expression by UniProt/SwissProt for IFT74 Gene:

Tissue specificity:Highly expressed in adult and fetal kidney and expressed at lower level in adult heart, placenta, lung, liver and pancreas, and in fetal heart, lung and liver. Little to no expression was detected in adult brain and skeletal muscle or in fetal brain, thymus and spleen.

Primer Products

No data available for
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery ,
mRNA differential expression in normal tissues ,
Evidence on tissue expression from TISSUES and
Phenotype-based relationships between genes and organs from Gene ORGANizer
for IFT74 Gene

UniProtKB/Swiss-Prot

Bardet-Biedl syndrome 20 (BBS20) [MIM:617119]: A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269 PubMed:27486776}. Note=The disease is caused by mutations affecting the gene represented in this entry.